ClinVar for MedGen (Select 340145) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696681	NM_014208.3(DSPP):c.1661G>A (p.Ser554Asn)	DSPP (S554N)	Single nucleotide variant (missense variant)	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	GUncertain significance
Select item 1691573	NM_014208.3(DSPP):c.981G>T (p.Glu327Asp)	DSPP (E327D)	Single nucleotide variant (missense variant)	Denticles +4 more	GUncertain significance
Select item 1031808	NM_014208.3(DSPP):c.1847G>A (p.Ser616Asn)	DSPP (S616N)	Single nucleotide variant (missense variant)	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	GUncertain significance
Select item 982865	NM_014208.3(DSPP):c.3535_3537delinsGAC (p.Asn1179Asp)	DSPP (N1179D)	Indel (missense variant)	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 +3 more	GUncertain significance
Select item 834048	NM_014208.3(DSPP):c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA (p.Gly123fs)	DSPP (G123fs)	Indel (frameshift variant)	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 +1 more	GConflicting classifications of pathogenicity
Select item 817628	NM_014208.3(DSPP):c.2525del (p.Ser842fs)	DSPP (S842fs)	Deletion (frameshift variant)	Denticles +4 more	GPathogenic/Likely pathogenic
Select item 689607	NM_014208.3(DSPP):c.1031C>A (p.Thr344Asn)	DSPP (T344N)	Single nucleotide variant (missense variant)	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 +1 more	GConflicting classifications of pathogenicity
Select item 627439	NM_014208.3(DSPP):c.3248_3249insC (p.Glu1083fs)	DSPP (E1083fs)	Insertion (frameshift variant)	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	GLikely pathogenic
Select item 523082	NM_014208.3(DSPP):c.3681C>A (p.Asp1227Glu)	DSPP (D1227E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 260359	NM_014208.3(DSPP):c.897A>G (p.Ser299=)	DSPP	Single nucleotide variant (synonymous variant)	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 +5 more	GBenign
Select item 260356	NM_014208.3(DSPP):c.136-33T>C	DSPP	Single nucleotide variant	not specified +5 more	GBenign
Select item 260354	NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys)	DSPP (R354C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 260353	NM_014208.3(DSPP):c.*17G>A	DSPP	Single nucleotide variant	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 +5 more	GBenign